title: Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.
abstract: The authors report a 5-year follow-up examination of two sisters diagnosed as having a juvenile form of type II sialidosis. Diagnosis occurred during a routine ophthalmic examination when the girls were 5 and 3 years old after bilateral macular cherry-red spots were revealed. Main clinical findings were hypotonia, hepatosplenomegaly, hearing loss, dysostosis, and respiratory distress. Ophthalmic symptoms were low visual acuity and nystagmus. Spectral-domain optical coherence tomography examination showed increased reflectivity of the retinal ganglion cells. Sialidosis may present as a mild form with slow progression. The cherry-red spots may be the first clue for proper diagnosis of storage disease. Spectral-domain optical coherence tomography examination unveiled the accumulation of sialic acid in the retinal ganglion cells and could potentially be used to monitor the progression of storage diseases.
authors.affiliation: Service d’Exploration Fonctionnelle de la Vision et Neuro Ophtalmologie, Hopital Roger Salengro, Lille, France. remi.rosenberg@gmail.com
authors.forename: Rémi
authors.initials: R
authors.lastname: Rosenberg
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Halimi
authors.forename: Karine
authors.initials: K
authors.lastname: Mention-Mulliez
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Muriel
authors.initials: M
authors.lastname: Holder
authors.forename: Sabine
authors.initials: S
authors.lastname: Defoort-Dhellemmes
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D009081:Mucolipidoses / Q000175:diagnosis*; D012165:Retinal Ganglion Cells / Q000473:pathology; D041623:Tomography, Optical Coherence